The Patient Voice 2027

Real-World Data for Patient Advocacy Groups

Course Director: Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS
Sunday, January 31, 2027
15:30 – 16:30 PST
(1.0 Hour CE Session*)

Overview: Lysosomal diseases (LDs) are rare inborn errors of metabolism which contribute to great morbidity and mortality in affected individuals. Standard clinical research has significant limitations in many LDs, and in the ultra-rare subset, standard evidence sources fail entirely. A randomized trial is at the very least statistically challenging and often impossible. Dedicated registries and natural history studies are limited by the number of participants, thereby impacting the feasibility of meaningful analysis. Registries, trials, and natural history studies all depend on a participant pool or affected population large enough to generate signals of effectiveness. Oftentimes, the evidence derived from the day-to-day clinical care of the handful of diagnosed patients forms the largest source of data, and sometimes the only source of data.

Capturing usable real-world evidence from routine clinical care, without a formal registry infrastructure, is not a hypothetical. Working models already exist, including examples from advocacy groups for Niemann-Pick disease, mannosidoses and related diseases, the ultra-rare component of the MPS diseases, metachromatic leukodystrophy (MLD), multiple sulfatase deficiency (MSD), and others. Advocacy groups are well-positioned to develop a minimum data set, test use with physicians, support standardization, encourage adoption, and potentially organize data retention for use in research. Moreover, real-world data provides the foundation for establishing and publishing standards of clinical care for rare diseases, even if there is no approved disease-targeted therapy. These established guidelines in turn, significantly improve understanding of the disease, help identify meaningful outcomes measures, and bring greater visibility to the rare disease, thus accelerating the pathway towards therapy development. 

This session will cover successful examples and practical applications for advocacy organizations to use real-world data in development and publication of standards of care, and actively engage government regulators in enacting meaningful changes.

Format/Agenda: Expert panel interviews and discussion with focused questions intended to address the stated issues. The session will conclude with audience Q&A.

15:30   Welcome and Introduction of Faculty
15:35   Focused Interview Questions for Faculty with Panel Discussion     
16:20   Open Audience Q&A
16:30   Adjourn

Chair:
Philip J. (P.J.) Brooks, PhD
Deputy Director, Division of Rare Diseases Research Innovation
NIH – NCATS
Bethesda, Maryland, United States

Faculty:
Jenny Jackson, MS Physiology
President
International Society for Mannosidosis and Related Diseases (ISMRD)
Saratoga, NC, USA

Edward Neilan, MD, PhD
Chief Medical and Scientific Officer
National Organization for Rare Diseases (NORD)
Boston, Massachusetts, USA

Toni Mathieson
Chief Executive
Nieman-Pick UK (NPUK)
Newcastle Upon Tyne, England, United Kingdom

Target Audience: This activity has been designed to meet the educational needs of physicians, nurses, NP’s and PA’s, genetic counselors, researchers, patient advocates, and other attendees at WORLDSymposium who care for and treat patients with lysosomal diseases.

Learning Objectives:
At the end of this session, participants will be able to:

• Identify the threshold at which a disease’s rarity precludes clinical trials, registries, and natural history studies, and describe why routine clinical documentation, captured collaboratively by advocates and physicians, becomes the primary evidence source at that threshold.
• Identify at least one free or low-cost registry infrastructure option suitable for an ultra-rare disease community, and describe how a comparable disease built a working registry at a similar patient scale.
• Explain why data harmonization across clinical sites is essential for clinical-care data to be used as evidence for treatment development, and describe how patient advocates and physicians can collaborate to align documentation practices around a shared minimum data set.

WORLDSymposium is presenting the 4th Annual Patient Voice to be held on Sunday, January 31, 2027 from 15:30 – 16:30 PST just prior to the 23rd Annual WORLDSymposium opening event, “Be the Catalyst”.

This session is open to all attendees. It will also be recorded and offered as part of the On Demand program through March 12, 2027.

View previous Patient Voice agendas and speakers.